A Novel Genetic Variant Resulting in Familial Hypocalciuric Hypercalcaemia.

Presentation A 17-year-old male was referred to the endocrinology service with an incidental finding of hypercalcaemia. Over the course of the previous year his calcium ranged from 2.64-2.77mmol/L (reference range: 2.2-2.6mmol/L) in the setting of a normal/low parathyroid hormone (PTH) of 14-35pg/ml (reference range: 15-65pg/ml). Diagnosis Following biochemical confirmation of hypocalciuric hypercalcaemia he was referred for molecular genetic analysis which showed a heterozygous variant in the CASR gene previously undescribed in the literature: c.491A>G; p.GIn164Arg. Treatment The patient and his parents were reassured with regard to the benign nature of the condition and counselled with regard to its inheritance. Discussion Though there is little data on this genetic variant, it is assumed to have caused familial hypocalciuric hypercalcaemia (FHH) in this gentleman. FHH is an important differential in hypercalcaemia as it can be misdiagnosed as primary hyperparathyroidism, potentially leading to unnecessary surgical intervention.

Effects of localised cerebral lesions and dysphasia on verbal memory.

Twenty-nine patients with unilateral left hemisphere lesions, 22 patients with unilateral right hemisphere lesions, and 19 neurological control patients with extracerebral lesions were assessed on verbal memory recall and recognition tests and on a battery of language tests. The left hemisphere group was significantly impaired in memory and language skills. Significant verbal memory impairment was found both in the subgroup of left hemisphere lesion patients whose lesions involved the temporal lobe and in the subgroup whose lesions did not. However, no significant differences between these left hemisphere subgroups' levels of performance on memory tasks emerged, even when dysphasia was taken into account. This study, therefore, fails to support the notion of a specific anatomical correlate of verbal memory impairment within the left hemisphere. Dysphasic subjects were significantly impaired on verbal memory tasks but displayed the same pattern of sensitivity to the effects of word frequency and word concreteness on verbal memory as control subjects, suggesting that the verbal memory of the dysphasic subjects was quantitatively rather than qualitatively impaired. This impairment could not be attributed to deficits in the comprehension or expression of the memory test items, and it is, therefore, proposed that language disturbances may hinder the efficient use of such language based procedures as may subserve verbal memory.

Use of memory tests in differentiating organic disorder from depression.

Although memory tests are commonly used to help differentiate organic conditions from depression, the extent to which depression might influence test performance is unclear. Comparison of the performances of normal, brain-damaged, and depressed subjects on a battery of verbal and visual memory tests revealed that the incidence of impairment amongst the depressed subjects was not significantly greater than amongst normal subjects on the majority of measures, and that within the depressed group, the degree of depression was not related to poor test performance. The brain-damaged group displayed a significant incidence of impairment on all measures, and a significantly greater incidence than the depressed group on the majority of measures. It is concluded that memory tests have a useful role to play in differential diagnosis.

Modality specific word comprehension deficits in deep dyslexia.

A deep dyslexic patient was tested on a series of experiments designed to assess her comprehension of abstract words. On tests where a precise semantic representation of words was required, performance was much poorer with visual than with auditory presentation. However, on some but not all categorisation tests performance with both modalities was good. It is argued that deep dyslexia can result from a modality-specific deficit in attaining the meaning of words together with a disorder of the phonological reading route.

Confabulation and frontal lobe dysfunction.

A patient is reported who displayed marked confabulation after frontal lobe damage, and whose pattern of performance on memory tests was not typically amnesic. He initially displayed both "fantastic" and "momentary" confabulation, but several months later showed only "momentary" confabulation, which was apparent on direct questioning. This change in type of confabulation was paralleled by improved performance on frontal lobe tests, although his overall pattern of performance on memory tests was unchanged. It is suggested that severity of frontal lobe dysfunction determines the type of confabulation displayed.

The impairment of verbal semantic memory: a single case study.

We report our investigations of a single patient in whom there was a selective impairment of semantic memory. She had a marked deficit of individual word comprehension although other language and linguistic skills were relatively preserved. Here we document that her failures in word comprehension were stable over a long time period. She made "phonological" errors in defining meanings, which we argue are analogous to "visual" errors in reading. On verbal learning tasks her performance was shown to be relatively preserved, a finding which provides evidence of the dissociation of verbal semantic memory and episodic (event) memory.

Presenile stroke: long-term outcome for patients and their families.

Postal questionnaires were completed by the spouses of 170 surviving stroke patients who had attended a medical rehabilitation centre up to eight years earlier. Problems of self-care were reported as persisting in two thirds and restricted mobility in almost half of the patients. Outcome here was influenced by presence or absence rather than by side of hemiplegia. However, return to work was significantly more common with left hemiplegia. Memory defects were said to be displayed by one patient in three, communication loss and marked personality change by one in four. A third of both patients and spouses had received treatment for tension or depression, which points to a need for improved after-care facilities.

Effect of desmopressin on normal and impaired memory.

In view of the reported influence of vasopressin on the memory process of animals, trials were carried out on normal subjects and patients with memory disorders using the vasopressin analogue desmopressin. No beneficial effects could be demonstrated.

Sleep deprivation as a diagnostic instrument.

A 59-year-old man with chronic treatment-resistant depression developed severe cognitive impairment. The severity of depression and the mode of presentation led to difficulty in diagnosis between a dementing disorder and a depressive illness. The diagnostic conundrum was resolved by the use of sleep deprivation (SD), which demonstrated clear subjective and objective improvements in his condition. These changes were quantified by a range of psychometric tests, which showed that initial deficits in cognitive performance improved temporarily after SD, and these improvements were maintained after effective treatment of the depression with electroconvulsive therapy.